ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)

gnomAD frequency: 0.00061  dbSNP: rs148504065
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152597 SCV000201886 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala2308Ala in Exon 36 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (3/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs148504065).
Labcorp Genetics (formerly Invitae), Labcorp RCV000918543 SCV001063856 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000152597 SCV001157184 benign not specified 2019-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000918543 SCV001783602 likely benign not provided 2020-05-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478440 SCV002803362 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-10-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453124 SCV004181590 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453123 SCV004181591 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000918543 SCV005261764 likely benign not provided criteria provided, single submitter not provided

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